Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Holzgreve Syndrome |
|
Renal agenesis, Renal hypoplasia |
OMIM:236110 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Thin upper lip vermilion, Short nose, Anteverted nares, Cleft palate |
ORPHA:2015 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Lessel-Kubisch Syndrome |
|
Renal insufficiency, Renal hypoplasia |
OMIM:618681 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
17Q21.31 Microduplication Syndrome |
|
Anteverted nares, Abnormality of the dentition, High palate, Short philtrum, Short nose |
ORPHA:217340 |
Megaepiphyseal Dwarfism |
|
Cleft palate |
OMIM:249230 |
Intellectual Developmental Disorder, X-Linked 91 |
|
High palate, Short nose, Macrodontia |
OMIM:300577 |
Meier-Gorlin Syndrome 8 |
|
Unilateral renal hypoplasia, Nephroptosis |
OMIM:617564 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
2q33.1 deletion syndrome |
|
High palate, Cleft palate |
DECIPHER:51 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
Rhiny |
|
Short nose, Thin vermilion border, Anteverted nares |
OMIM:180360 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:311895 |
14Q11.2 Microdeletion Syndrome |
|
Depressed nasal bridge, Exaggerated cupid's bow, Deep philtrum, High palate, Everted lower lip ve... |
ORPHA:261120 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose |
ORPHA:1355 |
Sprengel Deformity |
|
Cleft palate |
ORPHA:3181 |
Maxillonasal Dysplasia |
|
Depressed nasal bridge, Open bite, Depressed nasal ridge, Cleft palate, Tooth agenesis, Short col... |
ORPHA:1248 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Bifid uvula, Cleft palate |
OMIM:258320 |
Burn-Mckeown Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia, Short nose, Abnormal palate... |
ORPHA:1200 |
Non-Distal Duplication 10Q |
|
Depressed nasal bridge, High palate, Everted lower lip vermilion, Short nose, Convex nasal ridge |
ORPHA:1695 |
Parc Syndrome |
|
Cleft palate |
OMIM:600331 |
Clark-Baraitser Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Down... |
OMIM:617752 |
Lethal Osteosclerotic Bone Dysplasia |
|
Anteverted nares, Depressed nasal ridge, Gingival fibromatosis, Gingival overgrowth, Short nose, ... |
ORPHA:1832 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis |
OMIM:617661 |
Orofaciodigital Syndrome Xi |
|
Bulbous nose, Wide nasal bridge, Cleft palate |
OMIM:612913 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Cle... |
OMIM:619736 |
Split-Hand/Foot Malformation 3 |
|
Renal hypoplasia |
OMIM:246560 |
Fetal Valproate Spectrum Disorder |
|
Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Short no... |
ORPHA:1906 |
Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia |
OMIM:600151 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Urethral obstruction, Renal dysplasia, Renal hypoplasia, Hypertrophy of the urinary bladder |
OMIM:601389 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia |
OMIM:236500 |
Adenylosuccinate Lyase Deficiency |
|
Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum |
ORPHA:46 |
Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal insufficiency, Renal hypoplasia |
OMIM:615996 |
Weaver-Williams Syndrome |
|
Cleft palate, Narrow mouth |
ORPHA:3448 |
Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose, Long philtrum |
OMIM:125700 |
17P13.3 Microduplication Syndrome |
|
Wide nose, High palate, Short nose, Narrow mouth |
ORPHA:217385 |
Ring Chromosome 8 Syndrome |
|
Short nose, Anteverted nares, Abnormal palate morphology |
ORPHA:1450 |
Vacterl Association With Hydrocephalus |
|
Stillbirth, Renal hypoplasia |
OMIM:276950 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stil... |
OMIM:614922 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Short nose, High palate, Long philtrum |
ORPHA:2598 |
X-Linked Intellectual Disability, Abidi Type |
|
Non-midline cleft lip, Prominent nasal bridge, Cleft palate |
ORPHA:85273 |
Anencephaly 2 |
|
Median cleft lip, Median cleft palate, Bifid nose, Cleft maxillary alveolar ridge |
OMIM:619452 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Convex nasal ridge, Cleft palate |
OMIM:600252 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria, Death in childhood |
OMIM:604273 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Bresek Syndrome |
|
Hypoplasia of the bladder, Renal hypoplasia, Neonatal death, Vesicoureteral reflux, Renal dysplasia |
ORPHA:85284 |
Disorganization, Mouse, Homolog Of |
|
Cleft palate, Cleft upper lip |
OMIM:223200 |
Joubert Syndrome 26 |
|
Cleft lip, Recurrent upper respiratory tract infections, Anteverted nares, Cleft palate |
OMIM:616784 |
Joubert Syndrome 22 |
|
Renal hypoplasia |
OMIM:615665 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Depressed nasal bridge, Pierre-Robin sequence, Anteverted nares, Cleft palate |
OMIM:184840 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Renal And Mullerian Duct Hypoplasia |
|
Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney |
OMIM:266810 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Bamforth-Lazarus Syndrome |
|
Cleft palate, Bilateral choanal atresia |
OMIM:241850 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
Facial Paresis, Hereditary Congenital, 3 |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Open mouth, Downturned corn... |
OMIM:614744 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Anteverted nares, Exaggerated cupid's bow, Wide mouth, Delayed eruption of permanent teeth, Thick... |
OMIM:618506 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Death in infancy, Bulbous nose, Wide nasal bridge, Cleft palate, Narrow mouth |
ORPHA:93946 |
Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Broad nasal tip, Wide nasal bridge, Cleft palate, Neonatal death |
OMIM:615524 |
Maxillonasal Dysplasia, Binder Type |
|
Short nose, Short columella, Depressed nasal bridge, Dental malocclusion |
OMIM:155050 |
9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares, Protruding tongue |
DECIPHER:52 |
Robin Sequence-Oligodactyly Syndrome |
|
Glossoptosis, Cleft palate, Abnormality of the dentition |
ORPHA:3104 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type |
|
Cleft lip, Cleft palate, Broad nasal tip |
OMIM:300263 |
16P11.2P12.2 Microduplication Syndrome |
|
Cleft palate |
ORPHA:261204 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft p... |
OMIM:615716 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Micropenis, Renal agenesis, Hypospadias, Renal hypoplasia |
ORPHA:171839 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of penis, Renal hypoplasia |
ORPHA:2256 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion,... |
OMIM:616898 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... |
OMIM:617610 |
Catifa Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Cleft lip, Cleft palate, Increased overbite, Long ph... |
OMIM:618761 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Anosmia, Cleft palate |
OMIM:612370 |
Trigonocephaly 1 |
|
High, narrow palate, Wide nasal bridge, Long philtrum, Short nose, Meckel diverticulum |
OMIM:190440 |
Hadziselimovic Syndrome |
|
Renal hypoplasia |
OMIM:612946 |
Orofaciodigital Syndrome Xvii |
|
Micropenis, Renal hypoplasia |
OMIM:617926 |
Even-Plus Syndrome |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Renal hypoplasia |
OMIM:616854 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Choanal atresia, Cleft palate, Abnormality of the sense of... |
ORPHA:1135 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
Cenani-Lenz Syndactyly Syndrome |
|
Renal agenesis, Renal hypoplasia, Ectopic kidney |
OMIM:212780 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Abnormal soft palate morph... |
ORPHA:884 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, High palate, Short nose, Thic... |
OMIM:300558 |
Facial Clefting, Oblique, 1 |
|
Cleft palate, Cleft upper lip |
OMIM:600251 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Thin upper lip vermilion, Depressed nasal bridge, Long philtrum, Short nose, Smooth philtrum |
ORPHA:438178 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bilateral renal hyp... |
ORPHA:2260 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Prominent nasal bridge, Broad nasal tip, High palate, Long philtrum, Sh... |
OMIM:613544 |
Mesomelic Limb Shortening And Bowing |
|
Cleft palate |
OMIM:249710 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Smooth philtrum, Thin upper lip vermilion, Cleft palate, Underdeveloped nasal alae |
OMIM:611867 |
Adducted Thumbs Syndrome |
|
High, narrow palate, Velopharyngeal insufficiency, High palate, Cleft palate |
OMIM:201550 |
Melanocytic Nevus Syndrome, Congenital |
|
Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtrum, Everted lower lip vermilion... |
OMIM:137550 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Bamforth-Lazarus Syndrome |
|
Choanal atresia, Cleft palate |
ORPHA:1226 |
Coffin-Siris Syndrome 11 |
|
Depressed nasal bridge, Cleft soft palate, Esophageal atresia, Bulbous nose, Downturned corners o... |
OMIM:618779 |
Diprosopus |
|
Non-midline cleft lip, Cleft palate, Abnormality of the nose |
ORPHA:1681 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Thin upper lip vermilion, Short nose, High palate, Death in infancy |
OMIM:615042 |
Orofaciodigital Syndrome Viii |
|
Median cleft lip, Broad nasal tip, Bifid nasal tip, Cleft palate, High palate |
OMIM:300484 |
Perlman Syndrome |
|
Anteverted nares, High, narrow palate, Open mouth, Wide nasal bridge, Abnormal upper lip morpholo... |
ORPHA:2849 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Anteverted nares, Bulbous nose, Pierre-Robin sequence, Wide nasal bridg... |
OMIM:613604 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Ketonuria, Renal hypoplasia |
OMIM:619053 |
Distal Duplication 6P |
|
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia |
ORPHA:1745 |
Adams-Oliver Syndrome 6 |
|
Renal hypoplasia |
OMIM:616589 |
Chung-Jansen Syndrome |
|
Anteverted nares, Thin vermilion border, High palate, Short philtrum, Long philtrum, Short nose |
OMIM:617991 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Cleft palate |
OMIM:217150 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Hyperechogenic kidneys, Bilateral renal agenesis, Renal hypoplasia |
OMIM:617914 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Median cleft lip, Depressed nasal bridge, Cleft palate, Microglossia, Short nose |
OMIM:241800 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo... |
OMIM:614376 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death, Anteverted nares, Congenital pyloric atresia, Underdeveloped nasal alae |
OMIM:612138 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Burn-Mckeown Syndrome |
|
Renal hypoplasia, Unilateral renal agenesis |
OMIM:608572 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Downturned corners of mouth, ... |
OMIM:613443 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Stickler Syndrome Type 1 |
|
Short nose, Cleft palate, Long philtrum |
ORPHA:90653 |
Thomas Syndrome |
|
Cleft palate, Cleft upper lip |
ORPHA:3316 |
Fetal Akinesia Deformation Sequence 2 |
|
Tented upper lip vermilion, High palate, Wide nasal bridge, Cleft palate |
OMIM:618388 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Mungan Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:611376 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Renal cyst |
OMIM:614870 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... |
ORPHA:97362 |
Pai Syndrome |
|
Nasal polyposis, Depressed nasal bridge, Median cleft lip, Cleft palate, Abnormal oral frenulum m... |
ORPHA:1993 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Cleft palate |
OMIM:183700 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Cleft lip, Anosmia, Cleft palate, Bifid nose, Hyposmia |
OMIM:614838 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia |
ORPHA:464288 |
Verheij Syndrome |
|
Renal agenesis, Renal hypoplasia, Renal cyst |
OMIM:615583 |
Stickler Syndrome, Type Ii |
|
Depressed nasal bridge, Anteverted nares, High, narrow palate, Pierre-Robin sequence, Cleft palat... |
OMIM:604841 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Death in infancy, Short nose, Abnormal palate morphology, Narrow mouth |
ORPHA:1495 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Fg Syndrome 5 |
|
Depressed nasal bridge, Anteverted nares, Diastema, Long philtrum, Short nose |
OMIM:300581 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft palate, Cleft upper lip |
OMIM:120433 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, Short philtrum, Short nose |
ORPHA:2429 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Meckel Syndrome 12 |
|
Ureteral hypoplasia, Bilateral renal agenesis, Renal hypoplasia |
OMIM:616258 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Vesicoureteral reflux, Unilateral renal hypoplasia |
OMIM:619955 |
Zechi-Ceide Syndrome |
|
Wide nose, Cleft upper lip, Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Oligodontia |
OMIM:612916 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Fanconi Anemia, Complementation Group W |
|
Renal hypoplasia |
OMIM:617784 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, High pala... |
OMIM:614069 |
Potocki-Shaffer Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Short ... |
OMIM:601224 |
Meckel Syndrome, Type 8 |
|
Short nose, Depressed nasal ridge, Cleft palate, Cleft upper lip |
OMIM:613885 |
Distal Duplication 18Q |
|
Anteverted nares, Prominent nasal bridge, Choanal atresia, Abnormal dental morphology, Carious te... |
ORPHA:1716 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Acromicric Dysplasia |
|
Anteverted nares, Bulbous nose, Thick lower lip vermilion, Narrow mouth, Short nose, Long philtrum |
ORPHA:969 |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1484 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
Immunoneurologic Disorder, X-Linked |
|
Neonatal death, Functional abnormality of the bladder |
OMIM:300076 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... |
OMIM:617641 |
Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Underdeveloped nasal alae, Bifid nasal tip, Carious t... |
OMIM:620107 |
Non-Distal Duplication 13Q |
|
Abnormality of the dentition, Thin vermilion border, High palate, Everted lower lip vermilion, Lo... |
ORPHA:1702 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Anteverted nares, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Short nose, Ope... |
OMIM:619356 |
Cach Syndrome |
|
Renal hypoplasia |
ORPHA:135 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Renal hypoplasia |
OMIM:616817 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Hydronephrosis, Renal hypoplasia, Unilateral renal agenesis |
OMIM:618494 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal dysplasia, Renal insufficiency, Hypoplasia of penis, Renal hypoplasia |
ORPHA:85321 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Short nose, Open mouth, Broad nasal tip |
OMIM:613670 |
Isolated Atp Synthase Deficiency |
|
3-Methylglutaconic aciduria, Renal hypoplasia |
ORPHA:254913 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Tubulointerstitial nephrit... |
OMIM:617595 |
Treacher Collins Syndrome 4 |
|
Choanal stenosis, Cleft palate |
OMIM:618939 |
Abruzzo-Erickson Syndrome |
|
Cleft palate |
OMIM:302905 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Death in infancy, Depressed nasal bridge, Short nose, Dentinogenesis i... |
ORPHA:166272 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Depressed nasal ridge, Narrow mout... |
ORPHA:1529 |
Pierpont Syndrome |
|
Smooth philtrum, Wide nose, Broad nasal tip, Broad philtrum, Prominent median palatal raphe, Thin... |
OMIM:602342 |
Frontofacionasal Dysplasia |
|
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, Depressed nasal ... |
ORPHA:1791 |
Cebalid Syndrome |
|
Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, High palate, Short nose |
OMIM:618774 |
Braddock-Carey Syndrome 2 |
|
Wide mouth, Bulbous nose, Pierre-Robin sequence, Cleft palate |
OMIM:619981 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Renal hypoplasia |
ORPHA:75389 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short nose, Thin vermilion border, Narrow mouth |
ORPHA:2370 |
Oculoauriculofrontonasal Syndrome |
|
Wide nose, Underdeveloped nasal alae, Bifid nasal tip, Cleft lip, Cleft palate, Narrow mouth, Bro... |
ORPHA:398156 |
Isolated Dandy-Walker Malformation |
|
Cleft palate |
ORPHA:217 |
Matthew-Wood Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia, Horseshoe kidney |
ORPHA:2470 |
Fanconi Anemia, Complementation Group I |
|
Vesicoureteral reflux, Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney |
OMIM:609053 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Bulbous nose, High palate, ... |
OMIM:614105 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Proteinuria, Renal hypoplasia |
ORPHA:1307 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short nose, Wide nasal bridge, Cleft palate, Narrow mouth |
OMIM:614078 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... |
OMIM:137920 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Death in infancy, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Split hand/foot malformation 1 (SHFM1) |
|
Median cleft lip, Cleft palate |
DECIPHER:46 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Anteverted nares, Cleft soft palate, Broad nasal tip, Abnormality of the dentition, Wide nasal br... |
OMIM:618529 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
Parietal Foramina 1 |
|
Cleft palate, Cleft upper lip |
OMIM:168500 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... |
ORPHA:84081 |
Craniosynostosis, Herrmann-Opitz Type |
|
Short nose, Convex nasal ridge, Cleft palate |
ORPHA:2145 |
Baker-Gordon Syndrome |
|
Prominent nasal tip, Short nose, Thin upper lip vermilion, Smooth philtrum |
OMIM:618218 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Unilateral renal agenesis |
OMIM:235740 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Cleft palate, Long philtrum |
ORPHA:166100 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, L... |
OMIM:615866 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Cleft palate, Choanal steno... |
ORPHA:1790 |
Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Non-midline cleft lip, Cleft palate, Microdontia, Sho... |
ORPHA:1915 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Anteverted nares, Cleft upper lip, Bulbous nose, Wide nasal bridge, Cleft palate, Bifid uvula |
OMIM:300958 |
Miller-Dieker Syndrome |
|
Abnormal upper lip morphology, Short nose, Anteverted nares |
ORPHA:531 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Prominent nasal bridge, Intestinal malrotation, Wide nasal bridge, Long... |
ORPHA:401935 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Microphthalmia, Syndromic 8 |
|
Widely-spaced maxillary central incisors, Cleft palate, Orofacial cleft, Cleft upper lip |
OMIM:601349 |
12Q14 Microdeletion Syndrome |
|
Renal hypoplasia, Horseshoe kidney, Ectopic kidney |
ORPHA:94063 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Depressed nasal bridge, Anteverted nares, Open bite, Abnormality of dental eruption, Dental maloc... |
ORPHA:1327 |
Trisomy 12P |
|
Wide nasal bridge, Cleft palate, Downturned corners of mouth, Everted lower lip vermilion, Short ... |
ORPHA:1699 |
Peho-Like Syndrome |
|
Short nose, Open mouth |
OMIM:617507 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Renal hypoplasia |
OMIM:618914 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose, Thick vermilion border, Long philtrum |
ORPHA:833 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Esophageal atresia, Tracheoesophageal ... |
OMIM:619859 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Stage 5 chronic kidney disease, Renal cyst, Neonatal death, Hydron... |
OMIM:613390 |
Blepharonasofacial Malformation Syndrome |
|
Wide nose, Underdeveloped nasal alae, Non-midline cleft lip, Wide nasal bridge, Cleft palate, Too... |
ORPHA:1252 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short nose, Abnormal palate morphology, Long philtrum |
ORPHA:1389 |
Fetal Trimethadione Syndrome |
|
High palate, Short nose, Depressed nasal bridge |
ORPHA:1913 |
Periventricular Nodular Heterotopia 7 |
|
Anteverted nares, Dental crowding, Pierre-Robin sequence, Cleft palate, Narrow mouth, Short nose |
OMIM:617201 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Renal hypoplasia, Absence of renal corticomedullary differentiation |
OMIM:619758 |
Stickler Syndrome Type 2 |
|
Cleft palate |
ORPHA:90654 |
Hemifacial Microsomia With Radial Defects |
|
Short mandibular rami, Non-midline cleft lip, Cleft palate, Orofacial cleft |
OMIM:141400 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst |
OMIM:614091 |
Bartsocas-Papas Syndrome |
|
Median cleft lip, Underdeveloped nasal alae, Cleft palate, Narrow mouth, Short nose |
ORPHA:1234 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dental crowding, Cleft soft p... |
OMIM:616331 |
Emanuel Syndrome |
|
Recurrent urinary tract infections, Micropenis, Renal hypoplasia, Unilateral renal agenesis |
OMIM:609029 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Dental crowding, Narrow mouth, High palate, Long philtrum, Short nose |
OMIM:615539 |
Vitamin K Antagonist Embryofetopathy |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Macroglossia, Short nose |
ORPHA:1914 |
Diamond-Blackfan Anemia 8 |
|
Short nose, Thick upper lip vermilion, Wide nasal bridge |
OMIM:612563 |
Fetal Hydantoin Syndrome |
|
Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip vermilion, Short nose |
ORPHA:1912 |
Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bridge, Underdeveloped nasal... |
ORPHA:364577 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Tented upper lip vermilion, Midnasal stenosis, Anteverted nares, Choanal atr... |
ORPHA:280200 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:617660 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Anteverted nares, Cleft palate, Downturned corners of mouth, High palate,... |
ORPHA:163649 |
Frontonasal Dysplasia 3 |
|
Wide nasal bridge, Cleft palate, Underdeveloped nasal alae |
OMIM:613456 |
Amyotrophy, Hereditary Neuralgic |
|
Narrow mouth, Depressed nasal bridge, Cleft palate, Long nasal bridge |
OMIM:162100 |
Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Thin vermilion border, Neonatal deat... |
OMIM:610015 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Thick lower lip vermilion... |
OMIM:619854 |
Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... |
OMIM:617666 |
Microphthalmia, Syndromic 11 |
|
Cleft palate, Cleft upper lip |
OMIM:614402 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Anteverted nares, Carious teeth, Deep philtrum, Thick lower lip vermilion, Thin vermilion border,... |
ORPHA:2701 |
Isotretinoin Syndrome |
|
Depressed nasal bridge, Cleft palate |
ORPHA:2305 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Thin upper lip vermilion, Anteverted nares, Dental crowding, Pierre-Robin sequence, Anterior open... |
OMIM:617877 |
Ohdo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Hypoplasia of teeth, Thin vermilion ... |
OMIM:249620 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Narrow mouth, Wide nasal bridge, Narrow palate, Hypoplasia of teeth, Wide mouth, Short philtrum, ... |
OMIM:620250 |
Marden-Walker Syndrome |
|
Micropenis, Hypospadias, Renal hypoplasia |
OMIM:248700 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Short nose |
OMIM:618379 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Renal hypoplasia, Horseshoe kidney, Neonatal death, Pelvic kidney, Hydronephrosis |
OMIM:601186 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Velopharyngeal insufficiency,... |
OMIM:614701 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Nephroblastoma, Renal hypoplasia |
OMIM:612918 |
Waardenburg Syndrome Type 1 |
|
Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Underdeveloped nasal alae, Wi... |
ORPHA:894 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Wide nasal bridge, High palate... |
OMIM:619383 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Cleft palate, Underdeveloped nasal alae |
OMIM:601355 |
Faciocardiorenal Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Hypodontia, Narrow mouth, Smooth phil... |
ORPHA:1973 |
Fetal Gaucher Disease |
|
Death in infancy, Depressed nasal bridge, Anteverted nares, Stillbirth, High palate, Neonatal death |
ORPHA:85212 |
Oculomaxillofacial Dysostosis |
|
Median cleft lip, Underdeveloped nasal alae, Abnormality of the nose, Abnormality of the dentitio... |
ORPHA:1794 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Depressed nasal bridge, Bulbous nose, Wide nasal bridge, Downturned corners of mouth, Macroglossi... |
ORPHA:369891 |
Codas Syndrome |
|
Delayed eruption of teeth, Depressed nasal bridge, Abnormal dental enamel morphology, Anteverted ... |
ORPHA:1458 |
Anophthalmia Plus Syndrome |
|
Choanal atresia, Abnormal nasal morphology, Non-midline cleft lip, Cleft palate, Bilateral cleft ... |
ORPHA:1104 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Cleft lip, Bulbous nose, Deep philtrum, Wide nasal bridge, Cleft palate, Downturned corners of mo... |
OMIM:618571 |
Distal Deletion 9P |
|
Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, Short nose |
ORPHA:1642 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Wide nasal bridge, Long philtrum, Short nose, Broad philtrum |
OMIM:618577 |
Carey-Fineman-Ziter Syndrome |
|
Anteverted nares, Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Cleft palate, Glossopt... |
ORPHA:1358 |
Rauch-Steindl Syndrome |
|
Hyperechogenic kidneys, Bilateral renal hypoplasia, Miscarriage |
OMIM:619695 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Short nose, Tented upper lip vermilion, Dental crowding, Open mouth |
OMIM:300143 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Wide nasal bri... |
OMIM:614749 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Depressed nasal bridge, Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermi... |
OMIM:617865 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Non-midline cleft lip, Ectopic anus, Cleft palate |
ORPHA:2476 |
Orofaciodigital Syndrome Ix |
|
Median cleft lip, Accessory oral frenulum, Broad nasal tip, Bifid nasal tip, Abnormality of the d... |
OMIM:258865 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Cleft palate, Orofacial cleft, Long philtrum, Short nose |
ORPHA:1988 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose, Tented upper lip vermilion, Short philtrum |
ORPHA:85277 |
5Q14.3 Microdeletion Syndrome |
|
Short nose, Anteverted nares, Short philtrum, Open mouth |
ORPHA:228384 |
Down Syndrome |
|
Depressed nasal bridge, Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, O... |
ORPHA:870 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Thin upper lip vermilion, Wide mouth, Short nose, Smooth philtrum |
OMIM:615419 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose |
OMIM:245570 |
Orofaciodigital Syndrome X |
|
Depressed nasal bridge, Cleft palate |
OMIM:165590 |
Emanuel Syndrome |
|
Micropenis, Renal hypoplasia, Unilateral renal agenesis |
ORPHA:96170 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Cle... |
OMIM:239300 |
Tetrasomy 18P |
|
Narrow mouth, Short nose, Thin vermilion border, Long philtrum |
ORPHA:3307 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Death in infancy, Underdeveloped nasal alae, Abnormality of the dentit... |
ORPHA:2315 |
Microtia, Hearing Impairment, And Cleft Palate |
|
Cleft palate |
OMIM:612290 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Tented upper lip vermilion, Depressed nasal bridge, Bulbous nose, Macroglossia, Everted lower lip... |
ORPHA:261144 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Micropenis, Renal hypoplasia, Unilateral renal agenesis, Ectopic kidney |
OMIM:616541 |
15Q14 Microdeletion Syndrome |
|
Prominent nasal bridge, Abnormality of the dentition, Cleft palate, Short philtrum, Long philtrum... |
ORPHA:261190 |
Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Downturned corners of mouth, Thin vermilion border, Narrow mou... |
ORPHA:1895 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Lymphoid nodular hyperplasia, Short nose, Depressed nasal bridge |
ORPHA:210548 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... |
OMIM:146510 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... |
OMIM:607323 |
Holoprosencephaly 11 |
|
Cleft lip, Cleft palate |
OMIM:614226 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Depressed nasal bridge, Dental crowding, Bulbous nose, Wide nasal bridg... |
OMIM:617061 |
Fanconi Anemia, Complementation Group F |
|
Vesicoureteral reflux, Pelvic kidney, Microphallus, Renal hypoplasia |
OMIM:603467 |
Antley-Bixler Syndrome |
|
Anteverted nares, Choanal atresia, Cleft palate, Narrow mouth, Short nose, Long philtrum |
ORPHA:83 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pierre-Robin sequence, Cleft palate |
OMIM:602196 |
Lowry-Maclean Syndrome |
|
Choanal atresia, Delayed eruption of primary teeth, High, narrow palate, Pyloric stenosis, Talon ... |
ORPHA:2409 |
Gomez-Lopez-Hernandez Syndrome |
|
Anteverted nares, Thin vermilion border, High palate, Short nose, Smooth philtrum |
OMIM:601853 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Short nose, Convex nasal ridge |
OMIM:200130 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Broad nasal tip, Cleft palate, Bifid nose, Narrow mouth |
OMIM:239800 |
Pfeiffer Syndrome |
|
Depressed nasal bridge, Choanal atresia, Dental crowding, Choanal stenosis, High palate, Short nose |
OMIM:101600 |
Genitopalatocardiac Syndrome |
|
Cleft palate, Cleft upper lip |
OMIM:231060 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Depressed nasal bridge, Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermili... |
OMIM:617412 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Protruding tongue, Malabsorption, Macroglossia, Short nose |
OMIM:242860 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Prom... |
OMIM:618316 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Wide nasal bri... |
OMIM:614207 |
Acrocephalopolydactyly |
|
Short nose, Depressed nasal ridge |
ORPHA:221054 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Cleft soft palate, Prominent nose, Bulbous nose, Depressed nasal tip, Short philtrum, Prominent n... |
ORPHA:293725 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila... |
ORPHA:49041 |
Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Depressed nasal bridge, Anteverted nares, Dental crowding,... |
OMIM:145420 |
Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Thick lower lip vermilion... |
ORPHA:560 |
Holoprosencephaly 3 |
|
Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate... |
OMIM:142945 |
Aase-Smith Syndrome I |
|
Death in infancy, Open mouth, Cleft palate |
OMIM:147800 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Anteverted nares, Clef... |
ORPHA:261236 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Cleft palate, Short nose, Accessory oral frenulum |
ORPHA:79113 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Choanal atresia, Cleft upper lip, Anosmia, Cleft palate, Tooth agenesis, Hyposmia |
OMIM:147950 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Oligodontia of primary teeth, Cleft palate |
ORPHA:2010 |
Dermotrichic Syndrome |
|
Aganglionic megacolon, Short nose, Depressed nasal bridge |
ORPHA:99688 |
Exstrophy-Epispadias Complex |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the k... |
ORPHA:322 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Short nose, High palate, Wide nasal bridge |
OMIM:218000 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Thin upper lip vermilion, Bulbous nose, Wide nasal bridge, Short nose |
OMIM:620292 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Choanal atresia, Cleft upper lip, High, narrow palate, Depressed nasal ridge, Cleft palate |
OMIM:607597 |
Microphthalmia With Limb Anomalies |
|
Depressed nasal bridge, Cleft upper lip, Deep philtrum, Flared nostrils, Cleft palate, High palat... |
OMIM:206920 |
Pseudotrisomy 13 Syndrome |
|
Micropenis, Renal agenesis, Renal hypoplasia |
OMIM:264480 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis |
OMIM:617913 |
Acrodysostosis |
|
Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Open bite, Depressed nasal r... |
ORPHA:950 |
Lymphatic Malformation 5 |
|
Cleft palate |
OMIM:153200 |
Smith-Magenis Syndrome |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Delayed eruption of primary... |
ORPHA:819 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hyposmia, Anosmia, Cleft palate, Cleft upper lip |
OMIM:244200 |
Developmental And Epileptic Encephalopathy 75 |
|
Anteverted nares, Wide nasal bridge, Short philtrum, Open mouth, Short nose |
OMIM:618437 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Anosmia, Cleft palate |
OMIM:614880 |
16P12.1P12.3 Triplication Syndrome |
|
High, narrow palate, Bulbous nose, Wide mouth, Thin vermilion border, Long philtrum, Short nose |
ORPHA:485405 |
Marshall-Smith Syndrome |
|
Anteverted nares, Choanal atresia, Protruding tongue, Gingival overgrowth, Short nose, Open mouth |
ORPHA:561 |
Raine Syndrome |
|
Natal tooth, Death in infancy, Depressed nasal bridge, Choanal atresia, Protruding tongue, Gingiv... |
OMIM:259775 |
Malan Syndrome |
|
Gingival overgrowth, Everted lower lip vermilion, Narrow mouth, Advanced eruption of teeth, Short... |
OMIM:614753 |
Schilbach-Rott Syndrome |
|
Prominent nose, Long nose, Submucous cleft hard palate, Narrow mouth, Bifid uvula |
OMIM:164220 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Broad nasal tip, Recurrent upper respiratory tract infections, Downturned corners of mouth, Promi... |
ORPHA:391372 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... |
OMIM:614527 |
Birk-Barel Syndrome |
|
Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula |
OMIM:612292 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Solitary median maxillary central incisor, High palate, Cleft palate, Cleft upper lip |
OMIM:602418 |
Radial-Renal Syndrome |
|
Unilateral renal agenesis, Ectopic kidney |
OMIM:179280 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Deep philtrum, High palate,... |
ORPHA:314655 |
Stromme Syndrome |
|
Stillbirth, Bilateral renal hypoplasia, Hydronephrosis |
OMIM:243605 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Anteverted nares, Choanal atresia, Esophageal atresia, Deep philtrum, Cleft palate, Short nose |
OMIM:610536 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Anteverted nares, Selective tooth agenesis, Underdeveloped nasal alae, Cleft... |
OMIM:164200 |
Pfeiffer Syndrome Type 2 |
|
Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Cleft palate, High palate, Short... |
ORPHA:93259 |
Congenital Myopathy 17 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia |
OMIM:618975 |
3C Syndrome |
|
Death in infancy, Depressed nasal bridge, Intestinal malrotation, High, narrow palate, Wide nasal... |
ORPHA:7 |
Pfeiffer Syndrome Type 1 |
|
High palate, Short nose, Depressed nasal bridge |
ORPHA:93258 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... |
OMIM:200990 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Smooth philtrum, Dental crowding, Intestinal malrotation, Long nose, Carious teeth, Downturned co... |
OMIM:617602 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Depressed nasal bridge, Choanal atresia, Celiac disease, Bulbous nose, Absent cupid's bow, Short ... |
ORPHA:284169 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Dental crowding, Narrow nasal ridge, Premature loss of teeth, Hypoplasi... |
OMIM:608612 |
Pontocerebellar Hypoplasia, Type 10 |
|
Thin upper lip vermilion, Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, High palate... |
OMIM:615803 |
Microcephaly-Capillary Malformation Syndrome |
|
Cleft palate, Wide nose, Short nose |
OMIM:614261 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis |
OMIM:206750 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... |
ORPHA:49 |
Pterygium Colli, Isolated |
|
Short nose |
OMIM:177990 |
Achondrogenesis |
|
Short nose, Anteverted nares, Long philtrum |
ORPHA:932 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Bulbous nose, Aganglionic megacolon, Prominent nasal bridge, Short nose |
OMIM:613870 |
Al-Raqad Syndrome |
|
Thin upper lip vermilion, Short nose, Narrow mouth |
OMIM:616459 |
Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Anteverted nares, Cleft upper lip, Wide nasal bridge, Orofacial cleft, ... |
OMIM:243310 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Deep philtrum, Downturned... |
OMIM:615398 |
Prolidase Deficiency |
|
High palate, Short nose, Concave nasal ridge, Depressed nasal bridge |
OMIM:170100 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Wide nose, Abnormality of upper lip vermillion, Dental crowding, Prominent nasal bridge, Abnormal... |
ORPHA:251028 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Flat nasal alae, Unilateral cleft ... |
OMIM:610828 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Stillbirth, Renal hypoplasia, Renal cyst |
OMIM:616300 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Thin upper lip vermilion, Depressed nasal bridge, Long nose, Downturned corners of mouth, Wide mo... |
OMIM:618590 |
Bainbridge-Ropers Syndrome |
|
Thin upper lip vermilion, Death in infancy, Depressed nasal bridge, Anteverted nares, Prominent n... |
OMIM:615485 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Wide nose, Depressed nasal bridge, Anteverted nares, Deep philtrum, Death in ch... |
OMIM:613320 |
Cerebrooculonasal Syndrome |
|
U-Shaped upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proboscis, Narrow palate,... |
OMIM:605627 |
Schneckenbecken Dysplasia |
|
Short nose, Stillbirth, Cleft palate |
OMIM:269250 |
Aarskog-Scott Syndrome |
|
Anteverted nares, Cleft upper lip, Wide nasal bridge, Cleft palate, Curved linear dimple below th... |
OMIM:305400 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Short nose, Duodenal stenosis |
ORPHA:2547 |
Andersen-Tawil Syndrome |
|
Renal tubular dysfunction, Renal hypoplasia |
ORPHA:37553 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Depressed nasal bridge, Anteverted nares, Short nose, Death in childhood |
OMIM:618961 |
Cerebrofacioarticular Syndrome |
|
Hypospadias, Renal hypoplasia |
ORPHA:314679 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Short nose, Smooth philtrum |
OMIM:618828 |
Macrocephaly/Autism Syndrome |
|
High palate, Short nose, Depressed nasal bridge, Long philtrum |
OMIM:605309 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Unilateral renal agenesis, Persistent cloaca |
OMIM:615709 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Gingival overgrowth, Long philtrum,... |
OMIM:619179 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis |
OMIM:618460 |
Trisomy 8Q |
|
Non-midline cleft lip, Wide nasal bridge, Cleft palate, Orofacial cleft, Abnormal oral frenulum m... |
ORPHA:1752 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Thin upper lip vermilion, Deep philtrum, Dental malocclusion, High palate, Short nose |
ORPHA:329178 |
Van Maldergem Syndrome 1 |
|
Hypospadias, Renal hypoplasia |
OMIM:601390 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Short nasal septum, Anosmia, Depressed nasal bridge, Short nose |
OMIM:302950 |
3Q29 Microdeletion Syndrome |
|
Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Orofacial cleft, High pala... |
ORPHA:65286 |
Leukodystrophy, Hypomyelinating, 10 |
|
Anteverted nares, Bulbous nose, Thin vermilion border, Long philtrum, Short nose, Smooth philtrum |
OMIM:616420 |
Phakomatosis Pigmentokeratotica |
|
Unilateral renal hypoplasia, Nephroblastoma, Renal transitional cell carcinoma |
ORPHA:2874 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Anteverted nares, Wide nasal bridge, Cleft palate, Unilateral cleft lip, Short nose |
OMIM:616897 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Short nose, Thick nasal alae |
ORPHA:163961 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow, Deep philtrum, High ... |
OMIM:619833 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Volvulus, Short nose, Depressed nasal bridge, Natal tooth |
OMIM:617802 |
Acropectorovertebral Dysplasia |
|
High, narrow palate, Cleft palate |
ORPHA:957 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Cleft hard palate, Broad nasal tip |
ORPHA:166016 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Depressed nasal ridge, Wide mouth, Short philtrum, Short nose |
ORPHA:163966 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Pierre-Robin sequence, Choanal stenosis, Cleft soft palate |
OMIM:620183 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Anteverted nares, Carious teeth, High palate, Narrow mouth, Short nose, Long philtrum |
OMIM:219200 |
Achondrogenesis Type 1B |
|
Short nose, Anteverted nares, Long philtrum |
ORPHA:93298 |
Pfeiffer Syndrome Type 3 |
|
Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Cleft palate, High palate, Short... |
ORPHA:93260 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Bulbous nose, Downt... |
OMIM:618430 |
Short-Rib Thoracic Dysplasia 12 |
|
Neonatal death, Renal hypoplasia, Cystic renal dysplasia |
OMIM:269860 |
Cerebrofaciothoracic Dysplasia |
|
Wide nose, Cleft upper lip, Cleft palate, Wide mouth, Short nose, Broad philtrum |
ORPHA:1394 |
Van Maldergem Syndrome 2 |
|
Micropenis, Hypospadias, Renal hypoplasia |
OMIM:615546 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Glossoptosis, Short nose, Anteverted nares, Underdeveloped nasal alae |
ORPHA:2031 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death, Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters |
OMIM:619817 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis |
OMIM:618454 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Thin upper lip vermilion, Wide nose, Anteverted nares, Hypoplasia of teeth, Downturned corners of... |
ORPHA:391408 |
Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Thick lower lip vermilion, Pierre-Robin sequence, Cleft... |
OMIM:154780 |
19P13.13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Macroglossia, High palate, Na... |
ORPHA:357001 |
Achondrogenesis Type 1A |
|
Short nose, Anteverted nares, Long philtrum |
ORPHA:93299 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal... |
OMIM:122470 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Renal hypoplasia |
ORPHA:3138 |
Donnai-Barrow Syndrome |
|
Short nose, Depressed nasal bridge, Intestinal malrotation |
ORPHA:2143 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Depressed nasal bridge, Anteverted nares, Dental crowding, Underdeveloped nasal alae, Low inserti... |
OMIM:619005 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis |
OMIM:619362 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Depressed nasal bridge, Anteverted nares, Cleft lip, Dental malocclusion, Wide nasal bridge, Ging... |
OMIM:616894 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Concave nasal ridge, Short philtrum, Cleft palate |
OMIM:617337 |
Limb-Mammary Syndrome |
|
Bifid uvula, Hypodontia, Cleft palate |
OMIM:603543 |
Kinsship Syndrome |
|
Death in infancy, Renal hypoplasia, Horseshoe kidney |
OMIM:619297 |
Fanconi Anemia, Complementation Group L |
|
Micropenis, Renal hypoplasia, Unilateral renal agenesis |
OMIM:614083 |
Intellectual Disability-Strabismus Syndrome |
|
Depressed nasal bridge, Narrow nasal ridge, Prominent nose, Abnormality of the dentition, Wide mo... |
ORPHA:363528 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Short nose, Long philtrum |
OMIM:300887 |
Arthrogryposis, Distal, Type 2A |
|
Pursed lips, Dental crowding, Underdeveloped nasal alae, Whistling appearance, Wide nasal bridge,... |
OMIM:193700 |
Hypoglossia-Hypodactyly Syndrome |
|
Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Wide nasal bridge, Cleft pal... |
ORPHA:989 |
Fibrochondrogenesis 1 |
|
Depressed nasal bridge, Anteverted nares, Cleft palate, Stillbirth, Narrow mouth, Short nose, Lon... |
OMIM:228520 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Short nose, Depressed nasal bridge |
OMIM:616910 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Depressed nasal bridge, Anteverted nares, Pierre-Robin sequence, Cleft palate, Anteriorly placed ... |
OMIM:217980 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Short nose |
OMIM:611936 |
Autosomal Dominant Omodysplasia |
|
Short nose, Depressed nasal bridge, Long philtrum |
ORPHA:93328 |
Treacher Collins Syndrome 3 |
|
Cleft palate |
OMIM:248390 |
Smith-Kingsmore Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Open mouth, Wide mouth, Long philtrum, Short no... |
OMIM:616638 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Prominent nasal bridge, Malabsorption, Cleft palate, Anteriorly placed anus,... |
ORPHA:1225 |
C Syndrome |
|
Anteverted nares, Accessory oral frenulum, Wide nasal bridge, Wide mouth, High palate, Thick ante... |
OMIM:211750 |
Cenani-Lenz Syndrome |
|
Abnormal dental enamel morphology, High, narrow palate, Short philtrum, Hypodontia, Short nose, C... |
ORPHA:3258 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Depressed nasal bridge, Anteverted nares, Macroglossia, Concave nasal ridge, Short nose |
OMIM:613038 |
Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Cleft soft palate, Smooth philtrum |
OMIM:614526 |
Otopalatodigital Syndrome, Type I |
|
Selective tooth agenesis, Wide nasal bridge, Cleft palate, Multiple impacted teeth, Narrow mouth,... |
OMIM:311300 |
Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Bifid nose, Midline defect of the no... |
OMIM:229400 |
Micro Syndrome |
|
Anteverted nares, Wide nasal bridge, High palate, Short philtrum, Short nose |
ORPHA:2510 |
Congenital Disorder Of Glycosylation, Type Il |
|
Wide mouth, Short nose, Depressed nasal bridge, Long philtrum |
OMIM:608776 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Downturned corners of mouth, Short nose, Thin vermilion border, Short philtrum |
ORPHA:2983 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Prominent nasal bridge, Broad nasal tip, Wide nasal bridge, High palate, Long philtrum, Short nos... |
OMIM:300749 |
Nablus Mask-Like Facial Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Abnormality of the dentition,... |
OMIM:608156 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Absence of renal corticomedullary differentiation, Multiple small medullary ... |
OMIM:263200 |
Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy |
OMIM:600057 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anal stenosis, Depressed nasal bridge, Anteverted nares, Open mouth, Cleft palate, Thin vermilion... |
OMIM:614080 |
Peho Syndrome |
|
Short nose, Tented upper lip vermilion, Open mouth |
OMIM:260565 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... |
OMIM:118450 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Thin upper lip vermilion, Prominent nose, Bulbous nose, Depressed nasal ridge, Downturned corners... |
OMIM:156200 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Depressed nasal bridge, Abnormal dental enamel morphology, Cleft palate, Microdontia, Short nose |
ORPHA:1812 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Anteverted nares, Prominent nasal bridge, Open bite, Deep philtrum, Wide mouth, High palate, Ever... |
ORPHA:1974 |
Desmosterolosis |
|
Depressed nasal bridge, Intestinal malrotation, Abnormality of the nose, Submucous cleft hard pal... |
ORPHA:35107 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Abnormality of the dentition, Abnormality of canine, Talon cusp, Tooth ... |
ORPHA:363417 |
16P11.2P12.2 Microdeletion Syndrome |
|
Anteverted nares, Long nose, Bulbous nose, Orofacial cleft, Absent nasal bridge, Short nose, Open... |
ORPHA:261211 |
Tetrasomy 5P |
|
Anteverted nares, Wide nasal bridge, High palate, Long philtrum, Short nose |
ORPHA:3309 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Long philtrum, Short nose, Smooth ph... |
OMIM:616430 |
Rhombencephalosynapsis |
|
Anteverted nares, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Narrow mo... |
ORPHA:59315 |
Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Prominent nose,... |
ORPHA:177907 |
Boomerang Dysplasia |
|
Neonatal death, Hypoplastic nasal septum, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:112310 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Short nose |
ORPHA:1514 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Cleft soft palate, Wide nasal bridge, Submucous cleft soft palate, Short nose |
ORPHA:2282 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormal nostril morphology, Short nose, Thin upper lip vermilion, Anosmia |
ORPHA:1295 |
Cockayne Syndrome Type 3 |
|
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia... |
ORPHA:90324 |
Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate |
OMIM:243440 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Downturned corners of mouth, Short nose, Anteverted nares, Thick vermilion border |
ORPHA:1185 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Wide nose, Depressed nasal ridge, Short nose |
ORPHA:2831 |
Orofaciodigital Syndrome Type 4 |
|
Wide nose, Median cleft lip, Abnormal oral mucosa morphology, Choanal atresia, High, narrow palat... |
ORPHA:2753 |
Desmosterolosis |
|
Hypoplastic nasal bridge, Anteverted nares, Alveolar ridge overgrowth, Cleft palate, Gingival fib... |
OMIM:602398 |
Autosomal Recessive Omodysplasia |
|
Depressed nasal bridge, Anteverted nares, Short nose, Long philtrum |
ORPHA:93329 |
Warburg Micro Syndrome 3 |
|
Downturned corners of mouth, Short nose, Narrow palate |
OMIM:614222 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Prominent ... |
OMIM:608670 |
Diaphanospondylodysostosis |
|
Cleft palate, Depressed nasal bridge, Depressed nasal ridge, Short nose |
OMIM:608022 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Renal agenesis, Hypospadias, Renal hypoplasia, Horseshoe kidney, Pelvic kidney |
ORPHA:508498 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Short philtrum, Death i... |
ORPHA:1507 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Median cleft lip, Anteverted nares, Abnormal dental enamel morphology, Prema... |
ORPHA:2710 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Depressed nasal bridge, Wide mouth, High palate, Death in childhood, Short nose, Convex nasal ridge |
OMIM:300661 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Pyloric stenosis, Submucous cleft hard palate, High palate, Long philtr... |
ORPHA:457279 |
Adenylosuccinase Deficiency |
|
Thin upper lip vermilion, Anteverted nares, Wide mouth, Long philtrum, Short nose, Smooth philtrum |
OMIM:103050 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Anteverted nares, Underdeveloped nasal alae, Carious teeth, Wide nasal bridge, Thin vermilion bor... |
OMIM:613026 |
Distal Deletion 10Q |
|
Smooth philtrum, Thin upper lip vermilion, Prominent nasal bridge, Prominent nose, Wide nasal bri... |
ORPHA:96148 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Short nose, High palate, Wide nasal bridge |
OMIM:618005 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Anteverted nares, Broad nasal tip, Carious teeth, Prominent nasolabial fold, High palate, Long ph... |
ORPHA:357074 |
Alkuraya-Kucinskas Syndrome |
|
High palate, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:617822 |
8P23.1 Microdeletion Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Thin vermilion border, High palate, Short nose |
ORPHA:251071 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Anosmia, Single naris, Cleft palate, Absent nares, Hyposmia, Failure... |
ORPHA:2250 |
Ruvalcaba Syndrome |
|
Dental crowding, Thin vermilion border, Narrow mouth, Short nose, Convex nasal ridge |
ORPHA:3121 |
Meier-Gorlin Syndrome 6 |
|
Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Depressed nasal ridge, Cleft... |
OMIM:616835 |
Meckel Syndrome, Type 5 |
|
Cleft palate, Cleft upper lip |
OMIM:611561 |
Au-Kline Syndrome |
|
Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal tip, Dental malo... |
OMIM:616580 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Wide nasal bridge, Cleft p... |
OMIM:247200 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li... |
ORPHA:1071 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Depressed nasal bridge, Cleft palate, Narrow mouth, Short nose, Long ph... |
OMIM:601353 |
Pde4D Haploinsufficiency Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Abnormal dental enamel morphology, Prominent no... |
ORPHA:439822 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Abnormality of the dentition, Eruption failure, High palate, Long philtrum, Shor... |
ORPHA:476126 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Thin upper lip vermilion, Cleft lip, Malrotation of small bowel, Cleft palate, Prominent nasolabi... |
ORPHA:2953 |
20Q11.2 Microduplication Syndrome |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Tented philtrum, Wide nasal... |
ORPHA:363659 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Anteverted nares, Prominent nasal bridge, Deep philtrum, Dental malocclusion, Narrow palate, Wide... |
OMIM:227330 |
Achondrogenesis, Type Ia |
|
Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Protruding tongue, Stillbirth... |
OMIM:200600 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Renal hypoplasia, Unilateral renal agenesis, Pyelonephritis |
OMIM:181270 |
Lathosterolosis |
|
Anteverted nares, Bulbous nose, Gingival overgrowth, Downturned corners of mouth, High palate, Lo... |
ORPHA:46059 |
14Q22Q23 Microdeletion Syndrome |
|
Renal hypoplasia |
ORPHA:264200 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Death in infancy, Duplicated collecting system, Hypospadias, ... |
OMIM:270400 |
Tetraamelia Syndrome 2 |
|
Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate |
OMIM:618021 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Und... |
OMIM:300912 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Triangular mouth, Cleft palate, Long philtru... |
OMIM:257300 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Choanal atresia, Cleft palate, Rectovaginal fistula, Anal atresia |
OMIM:270420 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:2835 |
Syndromic Diarrhea |
|
Renal hypoplasia, Polycystic kidney dysplasia |
ORPHA:84064 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Short nose, Hypodontia |
ORPHA:544503 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Short nose |
OMIM:618618 |
Acrofacial Dysostosis, Catania Type |
|
Smooth philtrum, Abnormality of the dentition, Carious teeth, Tooth agenesis, Short nose, Abnorma... |
ORPHA:1786 |
Cardiofaciocutaneous Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Open bite, Bulbous nose, ... |
OMIM:115150 |
Poland Syndrome |
|
Duplicated collecting system, Hypospadias, Renal hypoplasia/aplasia, Renal hypoplasia, Ureterocel... |
ORPHA:2911 |
Trisomy 20P |
|
Anteverted nares, Abnormality of the dentition, Downturned corners of mouth, Abnormal palate morp... |
ORPHA:261318 |
Weiss-Kruszka Syndrome |
|
Broad philtrum, Short nose, Anteverted nares, Exaggerated cupid's bow |
OMIM:618619 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Anteverted nares, Protruding tongue, Downturned corners of mouth, Macroglossia, Everted lower lip... |
ORPHA:96147 |
Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Intestinal malrotation, Diast... |
OMIM:244450 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Peho Syndrome |
|
Anteverted nares, Open mouth, Gingival overgrowth, Abnormal upper lip morphology, Short nose, Abn... |
ORPHA:2836 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Abnormality of the kidney, Horseshoe kidney, Unilateral renal agenesis, Ectopic kidney |
ORPHA:3109 |
Toluene Embryopathy |
|
Short nose, Thin vermilion border, Smooth philtrum |
ORPHA:1920 |
Robinow Syndrome |
|
Depressed nasal bridge, Anteverted nares, Dental crowding, Broad nasal tip, Persistence of primar... |
ORPHA:97360 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:614613 |
Amish Lethal Microcephaly |
|
Death in infancy, Cleft soft palate |
ORPHA:99742 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Wide nose, Protruding tongue, Thick vermilion border, Narrow mouth, Short nose,... |
OMIM:608779 |
Harel-Yoon Syndrome |
|
Short nose |
OMIM:617183 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Tented upper lip vermilion, Anteverted nares, Exaggerated cupid's bow,... |
ORPHA:261494 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Depressed nasal brid... |
OMIM:180700 |
Desbuquois Dysplasia 1 |
|
Depressed nasal bridge, Concave nasal ridge, Narrow mouth, Short nose, Smooth philtrum, Long phil... |
OMIM:251450 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
U-Shaped upper lip vermilion, Depressed nasal bridge, Anteverted nares, Protruding tongue, Diaste... |
OMIM:301040 |
Nicolaides-Baraitser Syndrome |
|
Narrow nasal bridge, Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Short lingual f... |
OMIM:601358 |
Gaucher Disease, Perinatal Lethal |
|
Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Everted lower lip vermilio... |
OMIM:608013 |
Dend Syndrome |
|
Downturned corners of mouth, Short nose, Anteverted nares, Long philtrum |
ORPHA:79134 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Depressed nasal bridge, Wide nasal bridge, Macroglossia, High palate, Narrow mouth, Short nose, L... |
OMIM:613457 |
Renal Agenesis, Bilateral |
|
Non-midline cleft lip, Depressed nasal ridge, Tracheoesophageal fistula, Cleft palate, Abnormal i... |
ORPHA:1848 |
Deeah Syndrome |
|
Death in infancy, Malabsorption, Narrow palate, Death in adolescence, Death in childhood, High pa... |
OMIM:619004 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Renal hypoplasia |
OMIM:620005 |
Otopalatodigital Syndrome Type 2 |
|
Depressed nasal bridge, Pierre-Robin sequence, Cleft palate, Glossoptosis, Oligodontia, Narrow mo... |
ORPHA:90652 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Atelosteogenesis, Type I |
|
Depressed nasal bridge, Cleft palate, Stillbirth, Neonatal death, Short nose |
OMIM:108720 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Short nose, Depressed nasal bridge |
OMIM:614732 |
Autosomal Dominant Robinow Syndrome |
|
Wide nose, Median cleft lip and palate, Depressed nasal bridge, Anteverted nares, Open bite, High... |
ORPHA:3107 |
Cockayne Syndrome |
|
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... |
ORPHA:191 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose |
ORPHA:289266 |
Oculopalatocerebral Syndrome |
|
Cleft palate |
OMIM:257910 |
Distal Duplication 5Q |
|
Prominent nasal bridge, Carious teeth, Thin vermilion border, Narrow mouth, Short nose, Long phil... |
ORPHA:96097 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Tented upper lip vermilion, High palate, Long philtrum, Short nose, Smooth philtrum |
OMIM:617527 |
Congenital Myopathy 22B, Severe Fetal |
|
Tented upper lip vermilion, Dental crowding, Wide nasal bridge, Triangular mouth, High palate, Sh... |
OMIM:620369 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Micropenis, Renal hypoplasia |
OMIM:619321 |
Degcags Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Bilateral renal dysplasia, Abnormal renal medull... |
OMIM:619488 |
Orofaciodigital Syndrome Type 10 |
|
Depressed nasal bridge, Cleft soft palate, Accessory oral frenulum, Long philtrum |
ORPHA:2756 |
Ayme-Gripp Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Abnormality of the dentition, Wide nasal bridge... |
OMIM:601088 |
Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
Plaa-Associated Neurodevelopmental Disorder |
|
Tented upper lip vermilion, High palate, Long philtrum, Short nose, Smooth philtrum |
ORPHA:521426 |
Renpenning Syndrome 1 |
|
Death in childhood, Hypospadias, Renal hypoplasia, Phimosis |
OMIM:309500 |
C Syndrome |
|
Death in infancy, Depressed nasal bridge, Anteverted nares, Accessory oral frenulum, Gingival ove... |
ORPHA:1308 |
Menke-Hennekam Syndrome 1 |
|
Narrow nasal bridge, Thin upper lip vermilion, Everted upper lip vermilion, Anteverted nares, Dep... |
OMIM:618332 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Wide nose, Anteverted nares, Abnormal large intestine morphology, Narrow pa... |
ORPHA:109 |
Chops Syndrome |
|
Anteverted nares, High, narrow palate, Downturned corners of mouth, Long philtrum, Short nose |
OMIM:616368 |
Chromosome 16P13.3 Duplication Syndrome |
|
Thin upper lip vermilion, Wide nose, Tented upper lip vermilion, Depressed nasal bridge, Antevert... |
OMIM:613458 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha... |
ORPHA:2751 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in infancy, Renal hypoplasia, Renal cyst, Stillbirth, Polycystic kidney dysplasia, Death in... |
OMIM:210710 |
Ring Chromosome 7 Syndrome |
|
Anteverted nares, Prominent nasal bridge, Wide nasal bridge, Cleft palate, Thin vermilion border,... |
ORPHA:1449 |
Gapo Syndrome |
|
Depressed nasal bridge, Anteverted nares, High, narrow palate, Thick lower lip vermilion, Eruptio... |
OMIM:230740 |
Fibrochondrogenesis 2 |
|
Short nose, Anteverted nares |
OMIM:614524 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Br... |
ORPHA:1465 |
Coffin-Lowry Syndrome |
|
Wide nose, Anteverted nares, Rectal prolapse, Thick lower lip vermilion, Dental malocclusion, Nar... |
OMIM:303600 |
Monosomy 9P |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Abnormality of the dentition, Narrow m... |
ORPHA:261112 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Overhanging nasal tip, Prominent nasal bridge, Cleft soft palate, Hia... |
OMIM:615582 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Aplasia of the nasal bone, Prominent nasal bridge, Narrow philtrum, Th... |
OMIM:601812 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Wide nose, Anteverted nares, Cleft upper lip, Wide nasal bridge, Gingival overgrowth, Microdontia... |
OMIM:213980 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Short nose, Prominent nasal bridge, Underdeveloped nasal alae |
ORPHA:2083 |
22Q11.2 Deletion Syndrome |
|
Hypospadias, Renal hypoplasia, Multiple renal cysts, Polycystic kidney dysplasia, Vesicoureteral ... |
ORPHA:567 |
Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Ureteral stenosis, Renal hypoplasia |
OMIM:270100 |
Trisomy 18 |
|
Choanal atresia, Esophageal atresia, Non-midline cleft lip, Cleft palate, Narrow palate, Narrow m... |
ORPHA:3380 |
Trisomy 10P |
|
Depressed nasal bridge, Anteverted nares, Abnormality of the nose, Orofacial cleft, Abnormal lip ... |
ORPHA:171929 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, D... |
OMIM:268310 |
Lathosterolosis |
|
Anteverted nares, Wide nasal bridge, Gingival overgrowth, Thin vermilion border, High palate, Lon... |
OMIM:607330 |
Fraser Syndrome |
|
Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasi... |
ORPHA:2052 |
Poikiloderma With Neutropenia |
|
Depressed nasal bridge, Underdeveloped nasal alae, Carious teeth, Recurrent sinusitis, Long philt... |
OMIM:604173 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Anal stenosis, Tented upper lip vermilion, Anteverted ... |
ORPHA:280633 |
Donnai-Barrow Syndrome |
|
Short nose, Depressed nasal bridge, Intestinal malrotation, Broad nasal tip |
OMIM:222448 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Orofacial cleft, Narrow mouth, Sho... |
ORPHA:77301 |
Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Intestinal obstruction, Malabsorption, Triangular mouth, Short nose |
OMIM:601675 |
Phocomelia, Schinzel Type |
|
High, narrow palate, Tracheoesophageal fistula, Cleft palate, Short nose, Anal atresia |
ORPHA:2879 |
Van Esch-O'Driscoll Syndrome |
|
Depressed nasal bridge, Esophageal atresia, Tracheoesophageal fistula, Downturned corners of mout... |
OMIM:301030 |
Fraser Syndrome 1 |
|
Micropenis, Hypospadias, Renal hypoplasia, Renal hypoplasia/aplasia |
OMIM:219000 |
Marshall-Smith Syndrome |
|
Eclabion, Irregular dentition, Depressed nasal bridge, Anteverted nares, Choanal atresia, Pyloric... |
OMIM:602535 |
Cardiofaciocutaneous Syndrome |
|
Depressed nasal bridge, Anteverted nares, Submucous cleft hard palate, High palate, Long philtrum... |
ORPHA:1340 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Choanal atresia, Dental crowding, Cl... |
OMIM:301044 |
Rothmund-Thomson Syndrome, Type 2 |
|
Delayed eruption of teeth, Depressed nasal bridge, Supernumerary tooth, Hypoplasia of teeth, Ante... |
OMIM:268400 |
Toriello-Carey Syndrome |
|
Aganglionic megacolon, Cleft palate, Anteriorly placed anus, High palate, Short nose, Abnormal pa... |
ORPHA:3338 |
Diamond-Blackfan Anemia 1 |
|
Renal hypoplasia |
OMIM:105650 |
Osteoglophonic Dysplasia |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Choanal atresia, Nasal conge... |
OMIM:166250 |
Jaberi-Elahi Syndrome |
|
Short nose, Depressed nasal bridge, Triangular mouth |
OMIM:617988 |
Chand Syndrome |
|
Depressed nasal bridge, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol... |
ORPHA:1401 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Aganglionic megacolon, Wide nasal bridge, Short columella, Short philtrum, Short nose |
OMIM:613603 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Depressed nasal bridge, Anteverted nares, Protruding tongue, Long philtrum, Short nose |
ORPHA:50945 |
Williams Syndrome |
|
Death in early adulthood, Hypoplasia of penis, Renal insufficiency, Proteinuria, Recurrent urinar... |
ORPHA:904 |
Stuve-Wiedemann Syndrome 1 |
|
Pursed lips, Death in infancy, Anteverted nares, Carious teeth, Thin vermilion border, Smooth ton... |
OMIM:601559 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Prominent nose, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short philtrum, ... |
OMIM:619950 |
Specc1L-Related Hypertelorism Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Orofacial cleft, Thin vermilion border, Everted lower ... |
ORPHA:1519 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Recurrent urinary tract infections, Renal hypoplasia |
OMIM:617157 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Underdevelo... |
OMIM:305100 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Depressed nasal bridge, Anteverted nares, Narrow mouth, Microdontia, Short nose, Abnormal palate ... |
ORPHA:2719 |
Cree Mental Retardation Syndrome |
|
Cleft soft palate |
OMIM:606851 |
Williams-Beuren Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urethral stenosis, Abnormal renal morpho... |
OMIM:194050 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Short nose, Depressed nasal ridge |
OMIM:300863 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Abnormality of the kidney,... |
ORPHA:857 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Depressed nasal bridge, Bulbous nose, Narrow mouth, Short nose, Duodenal atresia |
OMIM:614114 |
Spondylocarpotarsal Synostosis Syndrome |
|
Anteverted nares, Broad nasal tip, Cleft palate, Failure of eruption of permanent teeth, Short no... |
OMIM:272460 |
Zttk Syndrome |
|
Depressed nasal bridge, Abnormality of the dentition, Submucous cleft hard palate, Wide nasal bri... |
OMIM:617140 |
Helsmoortel-Van Der Aa Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Carious teeth, High, narrow palate, ... |
OMIM:615873 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Narrow mouth, Bulbous nose, Th... |
OMIM:309590 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short nose, Tented upper lip vermilion, Depressed nasal bridge, Thick vermilion border |
OMIM:616723 |
Treacher Collins Syndrome 1 |
|
Choanal atresia, Cleft soft palate, Cleft palate, Wide mouth, Abnormal parotid gland morphology, ... |
OMIM:154500 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Short nose |
OMIM:618087 |
Microlissencephaly-Micromelia Syndrome |
|
Short nose, Long philtrum |
ORPHA:50810 |
Stickler Syndrome |
|
Anteverted nares, Depressed nasal bridge, Abnormal dental enamel morphology, Cleft upper lip, Ope... |
ORPHA:828 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Short nose, Anteverted nares, Hypoplasia of teeth |
OMIM:234050 |
Aymé-Gripp Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Cleft palate, Oligodontia, Narrow mouth, Short ... |
ORPHA:1272 |
Wiedemann-Steiner Syndrome |
|
Thin upper lip vermilion, Wide nasal bridge, High palate, Long philtrum, Short nose |
ORPHA:319182 |
White-Kernohan Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, U... |
OMIM:619426 |
Alg9-Cdg |
|
Thin upper lip vermilion, Villous atrophy, Depressed nasal bridge, Underdeveloped nasal alae, Wid... |
ORPHA:79328 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Depressed nasal brid... |
ORPHA:2729 |
Bosma Arhinia Microphthalmia Syndrome |
|
Choanal atresia, Cleft lip, Anosmia, Dental malocclusion, Cleft palate, Hypoplasia of teeth, High... |
OMIM:603457 |
Coffin-Siris Syndrome 1 |
|
Hydroureter, Hypospadias, Ectopic kidney, Renal hypoplasia, Hydronephrosis |
OMIM:135900 |
Ctcf-Related Neurodevelopmental Disorder |
|
Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Abnormality of the dentition, Cleft ... |
ORPHA:363611 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Downturned corners of mouth, Short nose, Anteverted nares, Abnormality of the dentition |
OMIM:612394 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Short nose |
ORPHA:496790 |
Jacobsen Syndrome |
|
Death in infancy, Anteverted nares, Intestinal malrotation, Pyloric stenosis, Wide nasal bridge, ... |
ORPHA:2308 |
Trisomy 8P |
|
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, Malrotati... |
ORPHA:264450 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Dental crowding, Cle... |
OMIM:300990 |
Lacrimoauriculodentodigital Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
ORPHA:2363 |
Townes-Brocks Syndrome 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Renal hypoplasia,... |
OMIM:107480 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Neonatal death, Short nose, Thick vermilion border, Long philtrum |
OMIM:252160 |
Craniofacial-Deafness-Hand Syndrome |
|
Short nose, Depressed nasal bridge, Narrow naris |
OMIM:122880 |
Noonan Syndrome 3 |
|
High palate, Hypoplastic nasal bridge, Anteverted nares, Short nose |
OMIM:609942 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Short nose, Recurrent upper respiratory tract infections |
ORPHA:3078 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis |
ORPHA:93271 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Short nose |
OMIM:256600 |
Treacher Collins Syndrome 2 |
|
Choanal stenosis, Choanal atresia, Cleft palate |
OMIM:613717 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Depressed nasal bridge, Underdeveloped nasal alae, Thin vermilion border, Narrow mouth, Short nos... |
OMIM:616007 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short nose, Abnormality of the dentition, Convex nasal ridge, Narrow mouth |
ORPHA:90154 |
Native American Myopathy |
|
Cleft palate, Downturned corners of mouth, High palate, Submucous cleft soft palate, Bifid uvula |
ORPHA:168572 |
Mietens Syndrome |
|
Wide nose, Wide nasal bridge, Short nose |
ORPHA:2557 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Depressed nasal bridge, Anteverted nares, Carious teeth, High palate, Long philtrum, Microdontia,... |
ORPHA:536467 |
Cerebrocostomandibular Syndrome |
|
Anal stenosis, Cleft soft palate, Carious teeth, Cleft lip, Pierre-Robin sequence, Cleft palate, ... |
OMIM:117650 |
Ogden Syndrome |
|
Thin upper lip vermilion, Everted upper lip vermilion, Depressed nasal bridge, Underdeveloped nas... |
OMIM:300855 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Depressed nasal bridge, Anteverted nares, Long nose, Bulbous nose, Gingival overgrowth, Narrow mo... |
ORPHA:508533 |
8Q24.3 Microdeletion Syndrome |
|
Abnormality of the kidney, Unilateral renal agenesis, Bilateral renal hypoplasia, Vesicoureteral ... |
ORPHA:508488 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia |
ORPHA:3404 |
Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Short nose |
OMIM:615851 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose |
ORPHA:1129 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Cleft soft palate |
ORPHA:93316 |
Simpson-Golabi-Behmel Syndrome |
|
Death in infancy, Anteverted nares, Cleft upper lip, High, narrow palate, Wide nasal bridge, Clef... |
ORPHA:373 |
Fontaine Progeroid Syndrome |
|
Thin upper lip vermilion, Death in infancy, Depressed nasal bridge, Protruding tongue, High, narr... |
OMIM:612289 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
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Vesicoureteral reflux, Micropenis, Hypospadias, Renal hypoplasia |
OMIM:309580 |
Arterial Tortuosity Syndrome |
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Hiatus hernia, Pyloric stenosis, Esophagitis, Short nose, Median cleft lip and palate |
ORPHA:3342 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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Thin upper lip vermilion, Intestinal malrotation, Hiatus hernia, Narrow mouth, Cleft palate, Shor... |
OMIM:601776 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
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Tented upper lip vermilion, Depressed nasal bridge, Abnormality of the dentition, Increased size ... |
ORPHA:457395 |
Brachytelephalangic Chondrodysplasia Punctata |
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Broad nasal tip, Depressed nasal ridge, Nasal congestion, Short columella, Short nose, Thick nasa... |
ORPHA:79345 |
Opsismodysplasia |
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Depressed nasal bridge, Anteverted nares, Short nose, Long philtrum |
OMIM:258480 |
Bartsocas-Papas Syndrome 1 |
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Anal stenosis, Cleft upper lip, Underdeveloped nasal alae, Cleft palate, Oral synechia, Short nos... |
OMIM:263650 |
Spondylodysplastic Ehlers-Danlos Syndrome |
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Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Cleft palate, Narrow mout... |
ORPHA:536471 |
Orofaciodigital Syndrome Xiv |
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Unilateral renal hypoplasia, Epispadias, Micropenis |
OMIM:615948 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
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Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Bulbous nose, Short denta... |
OMIM:271510 |
Charge Syndrome |
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Renal agenesis, Renal hypoplasia, Horseshoe kidney, Micropenis, Hydronephrosis |
OMIM:214800 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Depressed nasal bridge, Choanal atresia, High, narrow palate, Bulbous nose, Anteriorly placed anu... |
ORPHA:95699 |
Limb-Mammary Syndrome |
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Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Bifid uvula |
ORPHA:69085 |
Geleophysic Dysplasia 2 |
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Thin upper lip vermilion, Short nose, Smooth philtrum, Long philtrum |
OMIM:614185 |
Witteveen-Kolk Syndrome |
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Thin upper lip vermilion, Wide nose, Branchial fistula, Depressed nasal bridge, Prominent nasal b... |
OMIM:613406 |
Peters-Plus Syndrome |
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Hydronephrosis, Ureteral duplication, Hypospadias, Renal hypoplasia |
OMIM:261540 |
Opsismodysplasia |
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Short nose, Depressed nasal bridge |
ORPHA:2746 |
Jacobsen Syndrome |
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Depressed nasal bridge, Anteverted nares, Pyloric stenosis, U-Shaped upper lip vermilion, Short nose |
OMIM:147791 |
Acrocephalopolydactylous Dysplasia |
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Hypoplastic colon, Short nose, Hypoplasia of the small intestine |
OMIM:200995 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
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Short nose, Epistaxis |
OMIM:277450 |
Femoral-Facial Syndrome |
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Thin upper lip vermilion, Underdeveloped nasal alae, Cleft palate, Long philtrum, Short nose, Smo... |
OMIM:134780 |
Toriello-Lacassie-Droste Syndrome |
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Aganglionic megacolon, Short nose, Anteverted nares |
ORPHA:3339 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Thin upper lip vermilion, Anteverted nares, Downturned corners of mouth, Glossoptosis, Macrogloss... |
ORPHA:444077 |
Geleophysic Dysplasia 1 |
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Anteverted nares, Wide mouth, Long philtrum, Short nose, Smooth philtrum |
OMIM:231050 |
Cadds |
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Short nose |
ORPHA:369942 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Thin upper lip vermilion, Anteverted nares, High, narrow palate, Bulbous nose, Short uvula, Wide ... |
OMIM:619475 |
Schinzel-Giedion Syndrome |
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Delayed eruption of teeth, Aganglionic megacolon, Broad nasal tip, Abnormality of the gingiva, An... |
ORPHA:798 |
Warburg Micro Syndrome 2 |
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Short nose, Prominent nasal bridge |
OMIM:614225 |
Microphthalmia, Syndromic 6 |
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Renal hypoplasia |
OMIM:607932 |
1P21.3 Microdeletion Syndrome |
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Wide mouth, Short nose, Broad nasal tip |
ORPHA:293948 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Prominent nasal bridge, Cleft soft palate, Broad nasal tip, Underdeveloped nasal alae, Pyloric st... |
ORPHA:268261 |
Cornelia De Lange Syndrome |
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Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Choanal atresia, Intestinal ... |
ORPHA:199 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Wide nasal bridge, Thin vermilion border, High palate, U-Shaped upper lip vermilion, Short nose |
OMIM:609945 |
Molybdenum Cofactor Deficiency, Complementation Group A |
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Short nose, Thick vermilion border, Long philtrum |
OMIM:252150 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Thin upper lip vermilion, Broad nasal tip, Wide nasal bridge, High palate, Long philtrum, Promine... |
OMIM:620330 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Macroglossia, Short nose, Thick vermilion border |
ORPHA:505248 |
Peters Plus Syndrome |
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Intestinal fistula, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerat... |
ORPHA:709 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Anteverted nares, Broad nasal tip, Long nose, Carious teeth, Bulbous nose, Wide nasal bridge, Dow... |
OMIM:619522 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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Prominent nasal tip, Short nose, Thin upper lip vermilion, Smooth philtrum |
ORPHA:522077 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
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Depressed nasal bridge, Depressed nasal ridge, Concave nasal ridge, High palate, Long philtrum, S... |
OMIM:271665 |
Schinzel-Giedion Midface Retraction Syndrome |
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Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nares, Macroglossia, Choanal ... |
OMIM:269150 |
Aspartylglucosaminuria |
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Abnormality of the dentition, Carious teeth, Malabsorption, Wide nasal bridge, Gingival overgrowt... |
ORPHA:93 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Depressed nasal bridge, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Thin vermil... |
ORPHA:500150 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Exaggerated median tongue furrow, Depressed nasal bridge, Anteverted nares, Intestinal malrotatio... |
OMIM:312870 |
Diamond-Blackfan Anemia |
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Depressed nasal bridge, Cleft soft palate, Cleft lip, Wide nasal bridge, High palate, Adenocarcin... |
ORPHA:124 |
Sponastrime Dysplasia |
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Wide nose, Aplasia of the nasal bone, Anteverted nares, Depressed nasal bridge, Hypoplasia of the... |
ORPHA:93357 |
Microphthalmia, Syndromic 1 |
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Hydroureter, Hypospadias, Renal hypoplasia, Renal hypoplasia/aplasia |
OMIM:309800 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Dental crowding, Cle... |
OMIM:619503 |
Genitourinary And/Or Brain Malformation Syndrome |
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Aplasia of the nasal bone, Jejunal atresia, Ileal atresia, Long philtrum, Short nose |
OMIM:618820 |
Pallister-Hall Syndrome |
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Natal tooth, Anteverted nares, Choanal atresia, Accessory oral frenulum, Cleft lip, Depressed nas... |
ORPHA:672 |
Omodysplasia 1 |
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Short nose, Depressed nasal bridge, Wide nasal bridge, Long philtrum |
OMIM:258315 |
Hardikar Syndrome |
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Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Bilateral cleft lip ... |
OMIM:301068 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
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Cleft soft palate |
OMIM:614557 |
Acromesomelic Dysplasia 1 |
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Short nose |
OMIM:602875 |
Pallister-Killian Syndrome |
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Delayed eruption of teeth, Thin upper lip vermilion, Anal stenosis, Tented upper lip vermilion, D... |
OMIM:601803 |
Peroxisome Biogenesis Disorder 4B |
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Short nose |
OMIM:614863 |
Viss Syndrome |
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Chronic gastritis, Depressed nasal bridge, Prominent nasal bridge, Duodenitis, Intestinal malrota... |
OMIM:619472 |
Mowat-Wilson Syndrome |
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Dental crowding, Cleft hard palate, Widely spaced teeth, Bifid uvula, Broad columella, Abnormal d... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Delayed eruption of teeth, Dental crowding, Aganglionic megacolon, Abnormal dental morphology, Cl... |
ORPHA:261537 |
Lipodystrophy, Familial Partial, Type 7 |
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Short nose, Narrow nasal ridge, Narrow mouth |
OMIM:606721 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Delayed eruption of teeth, Dental crowding, Aganglionic megacolon, Abnormal dental morphology, Cl... |
ORPHA:261552 |
Six2-Related Frontonasal Dysplasia |
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Depressed nasal bridge, Prominent palatine ridges, Broad nasal tip |
ORPHA:488437 |